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| Cerebellar agenesis
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| Foveal hypopigmentation
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| Decreased inflammatory response
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| Increased inflammatory response
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| Trismus
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| Gingival overgrowth
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| Lip telangiectasia
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| Thick upper lip vermilion
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| Broad secondary alveolar ridge
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| Xerostomia
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| High palate
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| Thin upper lip vermilion
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| Myoclonus
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| Agenesis of primary mandibular central incisor
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| Agenesis of primary maxillary central incisor
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| Agenesis of permanent maxillary central incisor
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| Abnormal number of permanent teeth
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| Abnormality of circulating adrenocorticotropin level
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| Abnormality of potassium homeostasis
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| Aplasia/Hypoplasia of the cervical spine
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| Abnormality of the intrahepatic bile duct
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| Anomalous trichromacy
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| Dichromacy
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| Agenesis of primary maxillary lateral incisor
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| Agenesis of permanent mandibular central incisor
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| Cyclopia
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| Corneal asymmetry
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| Anisocoria
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| Auditory hallucinations
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| Self-mutilation of tongue and lips due to involuntary movements
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| Violent behavior
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| Repetitive compulsive behavior
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| No social interaction
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| Aplasia of the middle ear ossicles
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| Inappropriate sexual behavior
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| Dull facial expression
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| Abnormality of the temporal bone
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| Abnormality of the tragus
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| Bullet-shaped phalanges of the 3rd finger
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| Cone-shaped epiphyses of the middle phalanges of the hand
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| Midnasal atresia
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| Abnormality of the nasal cavity
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| Abnormality of the midnasal cavity
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| Cervical spine instability
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| Abnormal elasticity of skin
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| Midnasal stenosis
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| Aplasia of the distal phalanges of the toes
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| Dermal translucency
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| Flat nasal alae
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| Bracket epiphyses of the middle phalanges of the hand
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| Flat capital femoral epiphysis
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| limited elbow flexion/extension
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| Absent distal interphalangeal creases
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| Subcutaneous lipoma
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| Fragmented, irregular epiphyses
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| Parakeratosis
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| Cone-shaped epiphyses fused within their metaphyses
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| Hypermelanotic macule
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| absent styloid processes
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| rhizo-meso-acromelic limb shortening
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| Atheroeruptive xanthoma
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| Warfarin-induced skin necrosis
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| Thoracocervical ectopia cordis
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| Cone-shaped epiphyses of the distal phalanges of the hand
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| Irregular acetabular roof
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| Distal arthrogryposis
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| Patchy osteosclerosis
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| Deformed humeral heads
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| Tongue-like lumbar vertebral deformities
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| Juvenile rheumatoid arthritis
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| Talocalcaneal synostosis
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| Dysplastic distal thumb phalanges with a central hole
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| Dermatoglyphic ridges abnormal
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| Fragmentation of the epiphysis of the middle phalanx of the 3rd toe
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| Irregular epiphysis of the middle phalanx of the 3rd toe
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| Ivory epiphysis of the middle phalanx of the 3rd toe
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| Pseudoepiphysis of the middle phalanx of the 3rd toe
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| Small epiphysis of the middle phalanx of the 3rd toe
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| Stippling of the epiphysis of the middle phalanx of the 3rd toe
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| Triangular epiphysis of the middle phalanx of the 3rd toe
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| Absent epiphysis of the proximal phalanx of the 3rd toe
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| Bracket epiphysis of the proximal phalanx of the 3rd toe
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| Cone-shaped epiphysis of the proximal phalanx of the 3rd toe
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| Abnormality of the epiphyses of the 2nd finger
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| Aplasia/Hypoplasia of the 5th finger
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| Abnormality of phalangeal joints of the hand
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| Large placenta
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| Small placenta
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| Aplasia/Hypoplasia of fingers
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| Facial hypertrichosis
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| Premature graying of hair
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| Slow-growing hair
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| Fluctuating splenomegaly
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| Curly hair
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| Fine hair
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| White forelock
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| Depigmented fundus
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| Abnormal pupillary function
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| Unilateral ptosis
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| Dibasicaminoaciduria
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